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Autosomal recessive inheritance
- Autosomal recessive inheritance is the most common type of inheritance for retinal dystrophies. Learn about how autosomal recessive inheritance works, including an example of Bietti’s crystalline dystrophy ...
- Porphyria/Genetics ... Porphyria ... National Human Genome Research Institute ... The porphyrias are a group of different diseases, each caused by a specific abnormality ...
- Osteogenesis Imperfecta/Genetics ... Osteogenesis Imperfecta ... National Human Genome Research Institute ... Osteogenesis imperfecta is a genetic disorder that causes ...
- Spinal Muscular Atrophy/Genetics ... Spinal Muscular Atrophy ... National Human Genome Research Institute ... Spinal muscular atrophy is a group of inherited disorders ...
- Phenylketonuria/Genetics ... Phenylketonuria ... Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known ...
- Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate ...
- Bone Density/Specifics ... Bone Density ... National Institute of Arthritis and Musculoskeletal and Skin Diseases ... From the National Institutes of Health ... Osteopetrosis ...
- Friedreich Ataxia/Start Here ... Friedreich Ataxia ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Friedreich ataxia ( ...
- Muscular Dystrophy/Start Here ... Muscular Dystrophy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Muscular dystrophy ( ...
- NIAID studies many different syndromes which lead to high levels of an antibody called immunoglobulin E and are collectively called hyper-IgE syndromes.
(National Eye Institute) 